Results 21 to 30 of about 3,734 (156)
PLoS Genetics, 2023 Striated muscle laminopathies caused by missense mutations in the nuclear lamin gene LMNA are characterized by cardiac dysfunction and often skeletal muscle defects.
Ellen F Gregory +6 more
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The Underexplored Mechanobiology of Lamin A Biogenesis and Homeostasis. [PDF]
Biol CellWe highlight current evidence, unresolved questions, and future directions, proposing that mechanical regulation of lamin A biogenesis represents an underexplored dimension of lamin mechanobiology with broad implications for development, aging, laminopathies, and mechanically driven diseases. ABSTRACT Lamin A is a major contributor to nuclear mechanics
Fraboulet S, Aldarawish O, Dolega ME.
europepmc +2 more sources
Essential Role for Telomeric Repeat-Binding Factor 2 in Cardiac Development and Function. [PDF]
FASEB BioadvThis schematic illustrates a paradigm shift in telomere biology, demonstrating that Trf2 is a mandatory orchestrator of heart development and function through pathways distinct from its canonical telomere protective role. ABSTRACT Telomere repeat‐binding factor 2 (Trf2) is essential for protecting our telomeres.
Hakim Shoushtari A +11 more
europepmc +2 more sources
Dialing Down SUN1 for Laminopathies [PDF]
, 2012 Laminopathies, caused by mutations in A-type nuclear lamins, encompass a range of diseases, including forms of progeria and muscular dystrophy. In this issue, Chen et al.
Suh, Yousin, Kennedy, Brian K.
core +1 more source
Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review
Cells, 2023 Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known.
Antia Fernandez-Pombo +6 more
doaj +1 more source
The role of prelamin A post-translational maturation in stress response and 53BP1 recruitment
Frontiers in Cell and Developmental Biology, 2022 Lamin A is a main constituent of the nuclear lamina and contributes to nuclear shaping, mechano-signaling transduction and gene regulation, thus affecting major cellular processes such as cell cycle progression and entry into senescence, cellular ...
Cristina Capanni +9 more
doaj +1 more source
Biology, 2022 Cardiolaminopathies are a heterogeneous group of disorders which are due to mutations in the genes encoding for nuclear lamins or their binding proteins. The whole spectrum of cardiac manifestations encompasses atrial arrhythmias, conduction disturbances,
Anna Chiara Valenti +7 more
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The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence [PDF]
Open Biology, 2016 AKTIP is a shelterin-interacting protein required for replication of telomeric DNA. Here, we show that AKTIP biochemically interacts with A- and B-type lamins and affects lamin A, but not lamin C or B, expression.
Romina Burla +14 more
doaj +1 more source
Nuclear filaments: role in chromosomal positioning and gene expression
Nucleus, 2020 Nuclear lamins form an elastic meshwork underlying the inner nuclear membrane and provide mechanical rigidity to the nucleus and maintain shape. Lamins also maintain chromosome positioning and play important roles in several nuclear processes like ...
Manindra Bera, Kaushik Sengupta
doaj +1 more source
Structural and Mechanical Aberrations of the Nuclear Lamina in Disease
Cells, 2020 The nuclear lamins are the major components of the nuclear lamina in the nuclear envelope. Lamins are involved in numerous functions, including a role in providing structural support to the cell and the mechanosensing of the cell.
Merel Stiekema +3 more
doaj +1 more source